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Gene | FGFR3 |
Variant | K649_K650delinsIE |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 K649_K650delinsIE results in the deletion of two amino acids in the protein kinase domain of the Fgfr3 protein from amino acids 649 to 650, combined with the insertion of an isoleucine (I) and glutamic acid (E) at the same site (UniProt.org). K649_K650delinsIE has been identified in sequencing studies (PMID: 37682528), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 K649_K650delinsIE |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806159_1806164delinsATCGAG |
cDNA | c.1945_1950delinsATCGAG |
Protein | p.K649_K650delinsIE |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000142.5 | chr4:g.1806159_1806164delinsATCGAG | c.1945_1950delinsATCGAG | p.K649_K650delinsIE | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1806159_1806164delinsATCGAG | c.1945_1950delinsATCGAG | p.K649_K650delinsIE | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1806159_1806164delinsATCGAG | c.1945_1950delinsATCGAG | p.K649_K650delinsIE | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1806159_1806164delinsATCGAG | c.1945_1950delinsATCGAG | p.K649_K650delinsIE | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR3 K649_K650delinsIE | unknown |